VILL_HUMAN
ID VILL_HUMAN Reviewed; 856 AA.
AC O15195; A8MZP1; Q9BT80; Q9BWH7;
DT 20-JUN-2001, integrated into UniProtKB/Swiss-Prot.
DT 15-MAR-2005, sequence version 3.
DT 03-AUG-2022, entry version 173.
DE RecName: Full=Villin-like protein;
GN Name=VILL;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 127-856 (ISOFORM 1).
RC TISSUE=Eye, and Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 171-856 (ISOFORM 1).
RC TISSUE=Fetal brain, Lung, and Pancreas;
RX PubMed=9179494; DOI=10.1093/dnares/4.1.35;
RA Ishikawa S., Kai M., Tamari M., Takei Y., Takeuchi K., Bandou H.,
RA Yamane Y., Ogawa M., Nakamura Y.;
RT "Sequence analysis of a 685-kb genomic region on chromosome 3p22-p21.3 that
RT is homozygously deleted in a lung carcinoma cell line.";
RL DNA Res. 4:35-43(1997).
RN [5]
RP VARIANT GLN-798.
RX PubMed=29846532; DOI=10.1093/brain/awy129;
RA Sagie S., Lerman-Sagie T., Maljevic S., Yosovich K., Detert K., Chung S.K.,
RA Rees M.I., Lerche H., Lev D.;
RT "Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory
RT status epilepticus.";
RL Brain 141:E55-E55(2018).
CC -!- FUNCTION: Possible tumor suppressor.
CC -!- INTERACTION:
CC O15195-2; Q99732: LITAF; NbExp=3; IntAct=EBI-21845957, EBI-725647;
CC O15195-2; P10636: MAPT; NbExp=3; IntAct=EBI-21845957, EBI-366182;
CC O15195-2; Q96CV9: OPTN; NbExp=3; IntAct=EBI-21845957, EBI-748974;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O15195-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O15195-2; Sequence=VSP_006729;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed in 16 tissues examined.
CC -!- SIMILARITY: Belongs to the villin/gelsolin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH00243.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH04300.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AC105752; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471055; EAW64506.1; -; Genomic_DNA.
DR EMBL; BC000243; AAH00243.1; ALT_INIT; mRNA.
DR EMBL; BC004300; AAH04300.1; ALT_INIT; mRNA.
DR EMBL; D88154; BAA21668.1; -; mRNA.
DR CCDS; CCDS2670.2; -. [O15195-1]
DR PIR; JC5708; JC5708.
DR RefSeq; NP_056957.3; NM_015873.3. [O15195-1]
DR RefSeq; XP_005265248.1; XM_005265191.3.
DR RefSeq; XP_005265249.1; XM_005265192.4.
DR RefSeq; XP_006713247.1; XM_006713184.3.
DR RefSeq; XP_011532072.1; XM_011533770.2.
DR AlphaFoldDB; O15195; -.
DR SMR; O15195; -.
DR BioGRID; 119155; 7.
DR IntAct; O15195; 9.
DR STRING; 9606.ENSP00000283713; -.
DR iPTMnet; O15195; -.
DR PhosphoSitePlus; O15195; -.
DR BioMuta; VILL; -.
DR EPD; O15195; -.
DR jPOST; O15195; -.
DR MassIVE; O15195; -.
DR MaxQB; O15195; -.
DR PaxDb; O15195; -.
DR PeptideAtlas; O15195; -.
DR PRIDE; O15195; -.
DR ProteomicsDB; 48500; -. [O15195-1]
DR ProteomicsDB; 48501; -. [O15195-2]
DR Antibodypedia; 48930; 98 antibodies from 21 providers.
DR DNASU; 50853; -.
DR Ensembl; ENST00000283713.10; ENSP00000283713.6; ENSG00000136059.16. [O15195-1]
DR Ensembl; ENST00000383759.7; ENSP00000373266.2; ENSG00000136059.16. [O15195-1]
DR GeneID; 50853; -.
DR KEGG; hsa:50853; -.
DR MANE-Select; ENST00000383759.7; ENSP00000373266.2; NM_015873.4; NP_056957.3.
DR UCSC; uc003chj.4; human. [O15195-1]
DR CTD; 50853; -.
DR DisGeNET; 50853; -.
DR GeneCards; VILL; -.
DR HGNC; HGNC:30906; VILL.
DR HPA; ENSG00000136059; Group enriched (intestine, stomach).
DR MIM; 619666; gene.
DR neXtProt; NX_O15195; -.
DR OpenTargets; ENSG00000136059; -.
DR PharmGKB; PA134911684; -.
DR VEuPathDB; HostDB:ENSG00000136059; -.
DR eggNOG; KOG0443; Eukaryota.
DR GeneTree; ENSGT00940000160253; -.
DR HOGENOM; CLU_002568_3_1_1; -.
DR InParanoid; O15195; -.
DR OMA; HIWITEN; -.
DR OrthoDB; 1376537at2759; -.
DR PhylomeDB; O15195; -.
DR TreeFam; TF313468; -.
DR PathwayCommons; O15195; -.
DR SignaLink; O15195; -.
DR BioGRID-ORCS; 50853; 9 hits in 1075 CRISPR screens.
DR ChiTaRS; VILL; human.
DR GenomeRNAi; 50853; -.
DR Pharos; O15195; Tbio.
DR PRO; PR:O15195; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; O15195; protein.
DR Bgee; ENSG00000136059; Expressed in mucosa of transverse colon and 112 other tissues.
DR ExpressionAtlas; O15195; baseline and differential.
DR Genevisible; O15195; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0051015; F:actin filament binding; IBA:GO_Central.
DR GO; GO:0005546; F:phosphatidylinositol-4,5-bisphosphate binding; IBA:GO_Central.
DR GO; GO:0005200; F:structural constituent of cytoskeleton; TAS:ProtInc.
DR GO; GO:0051014; P:actin filament severing; IBA:GO_Central.
DR GO; GO:0008154; P:actin polymerization or depolymerization; IBA:GO_Central.
DR GO; GO:0051016; P:barbed-end actin filament capping; IBA:GO_Central.
DR Gene3D; 1.10.950.10; -; 1.
DR Gene3D; 3.40.20.10; -; 6.
DR InterPro; IPR029006; ADF-H/Gelsolin-like_dom_sf.
DR InterPro; IPR007123; Gelsolin-like_dom.
DR InterPro; IPR036180; Gelsolin-like_dom_sf.
DR InterPro; IPR015626; Villin-like.
DR InterPro; IPR007122; Villin/Gelsolin.
DR InterPro; IPR003128; Villin_headpiece.
DR InterPro; IPR036886; Villin_headpiece_dom_sf.
DR PANTHER; PTHR11977; PTHR11977; 1.
DR PANTHER; PTHR11977:SF30; PTHR11977:SF30; 1.
DR Pfam; PF00626; Gelsolin; 6.
DR Pfam; PF02209; VHP; 1.
DR PRINTS; PR00597; GELSOLIN.
DR SMART; SM00262; GEL; 6.
DR SMART; SM00153; VHP; 1.
DR SUPFAM; SSF47050; SSF47050; 1.
DR SUPFAM; SSF82754; SSF82754; 2.
DR PROSITE; PS51089; HP; 1.
PE 1: Evidence at protein level;
KW Actin capping; Actin-binding; Alternative splicing; Calcium;
KW Reference proteome; Repeat.
FT CHAIN 1..856
FT /note="Villin-like protein"
FT /id="PRO_0000218738"
FT REPEAT 22..74
FT /note="Gelsolin-like 1"
FT REPEAT 146..186
FT /note="Gelsolin-like 2"
FT REPEAT 263..307
FT /note="Gelsolin-like 3"
FT REPEAT 401..450
FT /note="Gelsolin-like 4"
FT REPEAT 521..561
FT /note="Gelsolin-like 5"
FT REPEAT 624..665
FT /note="Gelsolin-like 6"
FT DOMAIN 790..856
FT /note="HP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00595"
FT REGION 762..796
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 762..795
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 262..275
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_006729"
FT VARIANT 610
FT /note="F -> L (in dbSNP:rs1892814)"
FT /id="VAR_052938"
FT VARIANT 740
FT /note="L -> F (in dbSNP:rs9816693)"
FT /id="VAR_052939"
FT VARIANT 798
FT /note="R -> Q (in dbSNP:rs147292695)"
FT /evidence="ECO:0000269|PubMed:29846532"
FT /id="VAR_081640"
FT CONFLICT 229
FT /note="R -> C (in Ref. 4; BAA21668)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 856 AA; 95907 MW; A8B7EDEFDF11CEE1 CRC64;
MDISKGLPGM QGGLHIWISE NRKMVPVPEG AYGNFFEEHC YVILHVPQSP KATQGASSDL
HYWVGKQAGA EAQGAAEAFQ QRLQDELGGQ TVLHREAQGH ESDCFCSYFR PGIIYRKGGL
ASDLKHVETN LFNIQRLLHI KGRKHVSATE VELSWNSFNK GDIFLLDLGK MMIQWNGPKT
SISEKARGLA LTYSLRDRER GGGRAQIGVV DDEAKAPDLM QIMEAVLGRR VGSLRAATPS
KDINQLQKAN VRLYHVYEKG KDLVVLELAT PPLTQDLLQE EDFYILDQGG FKIYVWQGRM
SSLQERKAAF SRAVGFIQAK GYPTYTNVEV VNDGAESAAF KQLFRTWSEK RRRNQKLGGR
DKSIHVKLDV GKLHTQPKLA AQLRMVDDGS GKVEVWCIQD LHRQPVDPKR HGQLCAGNCY
LVLYTYQRLG RVQYILYLWQ GHQATADEIE ALNSNAEELD VMYGGVLVQE HVTMGSEPPH
FLAIFQGQLV IFQERAGHHG KGQSASTTRL FQVQGTDSHN TRTMEVPARA SSLNSSDIFL
LVTASVCYLW FGKGCNGDQR EMARVVVTVI SRKNEETVLE GQEPPHFWEA LGGRAPYPSN
KRLPEEVPSF QPRLFECSSH MGCLVLAEVG FFSQEDLDKY DIMLLDTWQE IFLWLGEAAS
EWKEAVAWGQ EYLKTHPAGR SPATPIVLVK QGHEPPTFIG WFFTWDPYKW TSHPSHKEVV
DGSPAAASTI SEITAEVNNL RLSRWPGNGR AGAVALQALK GSQDSSENDL VRSPKSAGSR
TSSSVSSTSA TINGGLRREQ LMHQAVEDLP EGVDPARREF YLSDSDFQDI FGKSKEEFYS
MATWRQRQEK KQLGFF
